Article
Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis.
The British journal of ophthalmology - 1 May 2011
Ferrari Stefano, Ponzin Diego, Ashworth Jane L, Fahnehjelm Kristina Teär, Summers C Gail, Harmatz Paul R, Scarpa Maurizio
Abstract excerpt
Ocular pathology is common in patients with mucopolysaccharidosis (MPS), a hereditary lysosomal storage disorder, where the eye as well as other tissues accumulate excessive amounts of glycosaminoglycans. Despite genetic and phenotypic heterogeneity within and between different types of MPS, the disease symptoms and clinical signs often manifest during the first 6 months of life with increasing head size,...
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